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Results 1 - 3 of 3 for Infantile onset spinocerebellar ataxia
  1. TWNK gene 
    ... the TWNK gene have been found to cause infantile-onset spinocerebellar ataxia (IOSCA). The most common mutation replaces the protein ... Sajantila A, Lonnqvist T, Spelbrink JN, Suomalainen A. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  2. TPP1 gene 
    ... de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  3. CACNA1A gene 
    ... swelling and coma. More About This Health Condition Spinocerebellar ataxia type 6 (SCA6) is another disorder caused by ... CACNA1A associated with mental retardation and epilepsy with infantile spasms. Epilepsia. 2009 Nov;50(11):2501-3. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics